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Disclaimer: The papers included here do not necessarily represent the first publication of some discoveries. In some cases, authors may be including the work of others. In this document ISOGG in no way is trying to assign credit to researchers. Some of the earlier research papers have been omitted because they use older naming conventions that would require further explanation.
Author, Paper, Journal, Year | Haplogroup(s) |
Adams S.M., King T.E., Bosch E., Jobling M.A. (2006). The Case of the Unreliable SNP: Recurrent Back-mutation of Y-chromosomal Marker P25 Through Gene Conversion. (abstract) Forensic Science International 159:14-20. |
R |
Alonso S, Flores C., Cabrera, V. Alonso, A., Mart�n P, Albarr�n C.,
Izagirre, N, de la R�a C, Garc�a O, (2005). The Place of the Basques in the European Y-chromosome Diversity Landscape. (available by subscription) European Journal of Human Genetics, 13:1293-1302. |
E, F, G, I, J, K, R |
Athey T W, Nordtvedt K (2005). Resolving the Placement of Haplogroup I-M223 in the Y-chromosome Phylogenetic Tree. (pdf) Journal of Genetic Genealogy, 1:54-55. |
I |
Behar D M, Garrigan D, Kaplan M E, Mobasher Z, Rosengarten D, Karafet T M,
Quintana-Murci L, Ostrer H, Skorecki K, Hammer M F, (2004). Contrasting Patterns of Y chromosome Variation in Ashkenazi Jewish and Host Non-Jewish European Populations. (pdf) Hum Genet 114:354-365. |
E, F, G, I, J, K, L, N, P, Q, R |
Butler J M, (2003) Recent Developments in Y-Short Tandem Repeat and Y-Single Nucleotide Polymorphism Analysis. (pdf) Forensic Sciece Review, Vol. 15, No. 2, 100-111. |
Main Tree; also refers to SNPs on A, B, C, D, E, F, G, H, I, J, K, L, M, N, O, P, Q, R |
Capelli C, Redhead, N, Romano V, Cali F, Lefranc, G, Delague V, Megarbane A,
Felice A E, Pascali V L, Neophytou P I, Poulli Z, Novelletto A, Malaspina P, Terrenato L,
Berebbi A, Fellous M, Thomas M G, Goldstein D B, (2005). Population Structure in the Mediterranean Basin: A Y Chromosome Perspective. (pdf) Annals of Human Genetics. |
C, E, I, J, N, P, R |
Cinnioglu C, King R, Kivisild T, Kalfoglu E, Atasoy S, Cavalleri G L, Lillie A S,
Roseman C C, Lin A A, Prince K, Oefner P J, Shen P, Semino O, Cavalli-Sforza L L,
Underhill P A, (2004). Excavating Y-chromosome Haplotype Strata in Anatolia. (pdf) Human Genetics, 114:127-148. |
A, C, E, G, H, I, J, K, L, N, O, Q, R |
Cox M P, Lahr M M (2006). Y-Chromosome Diversity Is Inversely Associated with Language Affiliation in Paired Austronesian- and Papuan-Speaking Communities from Solomon Islands. (pdf) American Journal of Human Biology, 18:35-50. |
K, M, O |
Cruciani F, Santolamazza P, Shen P, Macaulay V., Moral P, Olckers A,
Modiano D, Holmes S, Destro-Bisol G, Coia V, Wallace D C, Oefner P J, Torroni A,
Cavalli-Sforza L L, Scozarri R, Underhill P A, (2002). A Back Migration from Asia to Sub-Saharan Africa Is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes. (pdf) American Journal of Human Genetics, 70:1197-1214. |
A, B, D, E, F, G, I, J, K, L, O, R |
Cruciani F, La Fratta R, Santolamazza P, Sellito D, Pascone R, Moral P,
Watson E, Guida V, Beraud Colomb E, Zaharova B, Lavinha J, Vona G, Aman R, Cal� F,
Akar N, Richards M, Torroni A, Novelletto A, Scozzari R, (2004). Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out of Africa. (pdf) American Journal of Human Genetics, 74:1014-1022. |
D, E |
Cruciani F, La Fratta R, Torroni A, Underhill P A, Scozzari R, (2006). Molecular Dissection of the Y Chromosome Haplogroup E-M78 (E3b1a): A Posteriori Evaluation of a Microsatellite-Networked-Based Approach Through Six New Biallelic Markers. Human Mutation: Mutation in Brief #916. |
E |
Deng W, Shi B, He X, Zhang Z, Xu J, Li B, Yang J, Ling L, Dai C, Qiang B,
Shen Y, Chen R, (2004). Evolution and Migration History of the Chinese Population Inferred from the Chinese Y-chromosome Evidence. (pdf) Journal of Human Genetics, 49:339-348. |
A, C, D, E, K, L, O, P, Q, R |
Di Giacomo F, Luca F, Popa L O, Akar N, Anagnou N, Banyko J, Brdicka R,
Barbujani G, Papola F, Ciavarella G, Cucci F, Di Stasi L, Gavrila L, Kerimova M G,
Kovatchev D, Kozlov A I, Loutradis A, Mandarino V, Mammi� C, Michalodimitrakis E N,
Paoli G, Pappa K I, Pedicini G, Terrenato L, Tofanelli A, Mapaspina P, Novelletto A, (2004). Y Chromosomal Haplogroup J as a Signature of the Post-Neolithic Colonization of Europe. (pdf) Human Genetics, 115:357-371. |
J |
Flores G, Maca-Meyer N, Gonz�lez A M, Oefner P J, Shen P, P�rez, J A, Rojas A,
Larruga J M, Underhill, P A, (2004). Reduced Genetic Structure of the Iberian Peninsula Revealed by Y-chromosome Analysis: Implications for population demography. (pdf) European Journal of Human Genetics, 12:855-863. |
E F, G, I, J, K, N, P, R |
Hammer M F, Krafet T M, Park H, Omoto K, Harihara S, Stoneking M, Harai S, (2006). Dual Origins of the Japanese: Common Ground for Hunter-gatherer and Farmer Y Chromosomes. (abstract) Journal of Human Genetics, 51:47-58. |
C, D, N, O |
Hammer M F, Karafet T M, Redd A J, Jarjanazi H, Santachiara-Benerecetti A S,
Soodyall H, Zegura S L, (2001). Hierarchical Patterns of Global Human Y-Chromosome Diversity. (pdf) Molecular Biology and Evolution, 18:1189-1203. |
Main Tree; also refers to SNPs on A, B, C, D, J, K, M, N, O, Q, R |
Hammer M F, Chamberlain V F, Kearney V F, Stover D, Zhang G, Karafet T,
Walsh B, Redd A J, (2005). Population Structure of Y Chromosome SNP Haplogroups in the United States and Forensic Implications for Constructing Y Chromosome STR Databases. (in press) Forensic Science International. |
Main Tree; also refers to SNPs on A, B, C, D, E, F, G, I, J, K, L, N, O, P, Q, R |
Hudjashov G, (2006). Peopling of Sahul: Evidence from mtDNA and Y-Chromosome. Thesis (M.SC.) University of Tartu, Estonia. |
C, K, M, O, |
Hurles M E, Irven C, Nicholson J, Taylor P G, Santos F R, Loughlin J,
Jobling M A, Sykes B C, (1998). European Y-Chromosomal Lineages in Polynesians: A Contrast to the Population Structure Revealed by mtDNA. American Journal of Human Genetics, 63:1793-1806. |
M |
Hurles M E, Nicholson J, Bosch E, Renfew C, Sykes B C, Jobling M A, (2002). Y Chromosomal Evidence for the Origins of Oceanic-Speaking Peoples. Genetics, 160:289-303. |
M |
Jobling M A, Tyler-Smith C, (2003). The Human Y Chromosome: An Evolutionary Marker Comes of Age. Nature/Reviews/Genetics, 4:598-612. |
Main Tree; also refers to SNPs on A, B, C, D, E, F, G, H, I, J, K, L, M, N, O, P, Q, R |
Karafet T, Xu L, Du R, Wang W, Feng S, Wells R S, Redd A J, Zegura S L,
Hammer M F, (2001). Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes. (pdf) American Journal of Human Genetics, 69:615-628. |
C, D, J, L, O, R |
Karlsson A O, Wallerstr�m T, G�therstr�m A, Holmlund G, (2006) Y-chromosome Diversity in Sweden - A Long-time Perspective. European Journal of Human Genetics, 1-8. (Comments on paper from Dienekes' Anthropological Blog - fee for paper from www.nature.com/ejhg) |
I, N, R |
Kayser M, Brauer S, Weiss G, Schiefenh�vel W, Underhill P A, Stoneking M,
(2001). Independent Histories of Human Y Chromosomes from Melanesia and Australia. American Journal of Human Genetics, 68:173-190. |
C, K, M, O |
Kayser M. Brauer S., Weiss G., Schiefenh�vel W, Underhill P, Shen P,
Oefner P, Tommaseo-Ponzetta M, Stoneking M. (2003). Reduced Y-Chromosome, but Not Mitochrondrial DNA, Diversity in Human Populations from West New Guinea. American Journal of Human Genetics, 72:281-302. |
C, F, K, M, O, P, R |
Kayser M, Brauer S, Cordaux R, Casto A, Lao O, Zhivotovsky L A,
Moyse-Faurie C, Rutledge R B, Schiefenhoevel W, Gil D, Lin A A, Underhill P A,
Oefner P J, Trent R J, Stoneking M. (2006). Melanesian and Asian Origins of Polynesians: mtDNA and Y-Chromosome Gradients across the Pacific. MBE Advance Access published August 21, 2006. |
C | , K, M, NO, O
Kayser M, Brauer S, Weiss G, Underhill P A, Roewer L,
Schiefenh�vel W, Stoneking M, (2000). Melanesian Origin of Polynesian Y Chromosomes. Current Biology, Vol. 10, No. 20. |
M |
Kivisild T, Rootsi S, Metspalu M, Mastana S, Kaldma K, Parik J, Metspalu E,
Adojaan M, Tolk HV, Stepanov V, G�lge M, Usanga E, Papiha S S, Cinnioglu C, King R,
Cavalli-Sforza L, Underhill P A, Villems R, (2003). The Genetic Heritage of the Earliest Settlers Persists in Both Indian Tribal and Caste Populations. (pdf) American Journal of Human Genetics, 72:313-332. |
C, F, G, H, I, J, K, L, N, P, R |
McEvoy B, Bradley D G, (2006). Y-chromosomes and the Extent of Patrilineal Ancestry in Irish Surnames (abstract) Human Genetics 2006 Jan 12;:1-8 (Epub ahead of print). |
R |
Mohyuddin A., Ayub Q, Underhill P A, Tyler-Smith C, Mehdi S Q, (Feb. 10 2006). Detection of Novel Y SNPs Provides Further Insights into Y Chromosomal Variation in Pakistan. (abstract) Journal of Human Genetics. |
A, C, L, O, R |
Moore L T, McEvoy B, Cape E, Simms K, Bradley D G, (2006). A Y-chromosome Signature of Hegemony in Gaelic Ireland (abstract) American Journal of Human Genetics, 78(2):334-338. |
R |
Nasidze I, Quinque D, Dupanloup I, Rychkov S, Naumova O, Zoukova O, Stoneking M,
(2004). Genetic Evidence Concerning the Origins of the South and North Ossetians. (abstract) Annals of Human Genetics, 68:588-599. |
E, F, G, I, J, P, R |
Nasidze I, Quinque D, Ozturk M, Bendukidze N, and Stoneking M, (2005). MtDNA and Y-chromosome Variation in Kurdish Groups. (abstract) Annals of Human Genetics, 69:401-412. |
C, E, F, G, I, J, K, P, R |
Paracchini S, Pearce C L, Kolonel L N, Altshuler D, Henderson B E, Tyler-Smith C, (2003). A Y Chromosomal Influence on Prostate Cancer Risk: The Multi-ethnic Cohort Study. Journal of Medical Genetics, 40:815-819. |
Study involved A, B, C, D, E, F, H, I, J, K, L, M, N, Q and R and was significant in O |
Regueiro M, Cardenas A M, Gayden T, Underhill P A, Herrera T J, (2006). Iran: Tricontinental Nexus for Y-Chromosome Driven Migration. (abstract) Human Heredity, Vol. 61, No 3., 132-143. |
<B, C, E, F, G, H, J, K, L, N, O, Q, R |
Rootsi S, (Oct 2004). Human Y Chromosomal Variations in European Populations (dissertation) Council of the Institute of Molecular and Cell Biology, University of Tartu. |
Main Tree; also significant reference to SNPs on N, O |
Rootsi S, Magri C, Kisivild T, Benuzzi G, Help H, Bermisheva M, Kutuev I,
Barac L, Pericic M, Balanovsky O, Pshenichnov A, Dion D, Grobei M, Zhivotovsky L A,
Battaglia V, Achilli A, Al-Zahery N, Parik J, King R, Cinnioglu C, Kushnutdinova E,
Rudan P, Balanovska E, Scheffrahn W, Simonescu M, Brehm A, Goncalves R, Rosa A,
Joisan J-P, Chaventre A, Ferak V, F�redi S, Oefner P J, Shen P, Beckman L, Mikerezi I,
Terzic R, Primorac D, Cambon-Thomsen A, Krumina A, Torroni A, Underhill P A,
Santachiara-Benerecetti A S, Villems R, Semino O, (2004). Phylogeography of Y-Chromosome Haplogroup I Reveals Distinct Domains of Prehistoric Gene Flow In Europe. American Journal of Human Genetics, 75:128-137. |
I |
Scheinfeldt L. Friedlaender F, Friedlaender J, Latham K, Koki G, Karafet T,
Hammer M, Lorenz J, (2006). Unexpected NRY Chromosome Variation in Northern Island Melanesia. (Link and comments from Dienekes' Anthropological Blog) Society for Molecular Biology, 2006. |
C, K, M, O |
Semino O, Santachiara-Benerecetti A S, Falaschi F, Cavalli-Sforza L L,
Underhill P A, (2002). Ethiopians and Khoisan Share the Deepest Clades of the Human Y-Chromosome Phylogeny. (pdf) American Journal of Human Genetics, 70:265-268. |
A, B, E, F, G, J, K, R |
Semino O, Magri C, Benuzzi G, Lin A A, Al-Zahery N, Battaglia V, Maccioni L,
Triantaphyllidis C, Shen P, Oefner P J, Zhivotovsky L A, King R, Torroni A,
Cavalli-Sforza L L, Underhill P A, Santachiara-Benerecetti A S, (2004). Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area. (pdf) American Journal of Human Genetics, 74:1023-1034. |
E, J |
Sengupta S, Zhivotovsky L A, King R, Mehdi S Q, Edmonds C A, Chow C-A T, Lin A A
Mitra M, Sil S K, Ramesh A, Rani M V U, Thakur C M, Cavalli-Sforza L L, Majumder P P,
Underhill P A, (2006). Polarity and Temporality of High Resolution Y-chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists. (pdf) American Journal of Human Genetics, 78:202-221. |
C, D, E, F, G, H, I, J, K, L, N, O, R |
Shen P, Lavi T, Kisivild T, Chou V, Sengun D, Gefel D, Shpirer I, Woolf E,
Hillel J, Feldman M W, Oefner P J (2004). Reconstruction of Patrilineages and Matrilineages of Samaritans and other Israeli Populations from Y-Chromosome and Mitochondrial DNA Sequence Variation. (pdf) Human Mutation, 24:248-260. |
A, E, F, G, I, J, K, L, O, P, Q, R |
Shi et al, Y-Chromosome Evidence of Southern Origin of the East Asian-Specific Haplogroup O3-M122. (available by subscription) American Journal of Human Genetics. 77:408-419, 2005. | O |
Sims L M, Garvey D, Ballantyne J (2007). Sub-Populations Within the Major European and African Derived Haplogroups R1b3 and E3a Are Differentiated by Previously Phylogenetically Undefined Y-SNPs. Human Mutation: Mutation in Brief #940 (2007) Online. |
E, I, R |
Su B, Xiao J, Underhill P, Deka R, Zhang W, Akey J, Huang W, Shen D, Lu D,
Luo J, Chu J, Tan J, Shen P, Davis R, Cavalli-Sforza L L, Chakraborty R, Xiong M, Du R,
Oefner P, Chen Z, Jim L, (1999). Y-chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age. (pdf) American Journal of Human Genetics, 65:1718-1724. |
D, F, K, O, P, Q, R |
Thangaraj K, Singh L, Reddy A G, Rao V R, Sehgal S C, Underhill P A, Pierson M,
Frame I G, Hagelberg E, (2003). Genetic Affinities of the Andaman Islanders, a Vanishing Human Population. (pdf) Current Biology, 13:86-93. |
D, L, K, O, P |
Underhill P A, Passarino G, Lin A A, Shen P, Miraz�n Lahr M, Foley R A, Oefner P J,
Cavalli-Sforza, L L, (2001). The Phylogeography of Y Chromosome Binary Haplotypes and the Origins of Modern Human Populations. (pdf) Annals of Human Genetics, 65:43-62. |
Main Tree; also refers to SNPs on B, C, D, E, F, H, I, J, K, L, M, N, O, P, Q, R |
Underhill P A, Shen P, Lin A A, Passarino G, Yang W H, Karuffman E,
Bonn�-Tamir B, Bertranpetit J, Francalacci P, Ibrahim M, Jenkins T, Kidd J R,
Mehdi S Q, Seielstad M T, Wells R S, Piazza A, Davis R W, Feldman M W, Cavalli-Sforza L L,
Oerner P J, (2000). Y Chromosome Sequence Variation and the History of Human Populations. (pdf) Nature Genetics, 26: 358-361. |
Main Tree; also refers to SNPs on A, B, C, D, E, F, H, I, J, K, L, M, N, O, P, Q, R |
Valone P M, Butler, J M, (2004) Y SNP Typing of African-American and Caucasian Samples Using Allele-Specific Hybridization and Primer Extension. (pdf) Journal of Forensic Science, 49:4. |
A, B, E, G, I, R |
Y Chromosome Consortium (YCC), (2002). A Nomenclature System for the Tree of Human Y-Chromosomal Binary Haplogroups. Genome Research, 12:339-348. |
Main Tree; also refers to SNPs on A, B, C, D, E, F, G, H, I, J, K, L, M, N, O, P, Q, R |
Additional Older Papers: | Haplogroup(s) |
Hurles ME, Veitia R, Arroyo E, Armenteros M, Bertranpetit J, Perez-Lezaun A, Bosch E,
Shlumukova M, Cambon-Thomsen A, McElreavey K, Lopez De Munain A, Rohl A, Wilson IJ,
Singh L, Pandya A, Santos FR, Tyler-Smith C, Jobling MA, (1999). Recent Male-mediated Gene Flow over a Linguistic Barrier in Iberia, Suggested by Analysis of a Y-chromosomal DNA Polymorphism. American Journal of Human Genetics, Nov;65(5):1437-48. |
|
Jobling M, Samara, V, Pandya A, Fretwell N, Bernasconi B, Mitchell R J,
Gerelsaikhan T, Dashnyam B, Sajamtila A, Salo P J, Nakahori Y, Disteche C M,
Thangaraj K, Singh L, Crawford M H, Tyler Smith C, (1996). Recurrent Duplication and Deletion Polymorphisms on the Long Arm of the Y Chromosome in Normal Males. Human Molecular Genetics, Vol 5, No. 11, 1767-1775. |
|
Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M,
Arroyo E, Barbujani G, Beckman G, Beckman L, Bertranpetit J, Bosch E, Bradley DG, Brede G,
Cooper G, Corte-Real HB, de Knijff P, Decorte R, Dubrova YE, Evgrafov O, Gilissen A, Glisic S,
Golge M, Hill EW, Jeziorowska A, Kalaydjieva L, Kayser M, Kivisild T, Kravchenko SA,
Krumina A, Kucinskas V, Lavinha J, Livshits LA, Malaspina P, Maria S, McElreavey K,
Meitinger TA, Mikelsaar AV, Mitchell RJ, Nafa K, Nicholson J, Norby S, Pandya A, Parik J,
Patsalis PC, Pereira L, Peterlin B, Pielberg G, Prata MJ, Previdere C, Roewer L, Rootsi S,
Rubinsztein DC, Saillard J, Santos FR, Stefanescu G, Sykes BC, Tolun A, Villems R,
Tyler-Smith C, Jobling MA, (2000). Y-chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language. American Journal of Human Genetics, 2000 Dec;67(6):1526-43. |
|
Semino O, Passarino G, Oefner P J, Lin A A, Abruzova S, Beckman L E, De Benedictis G,
Francalacci P, Kouvatsi A, Limborska S, Marciki� M, Mika A, Mika B, Primorac D,
Santachiara-Benerecetti A S, Cavalli-Sforza L L, Underhill P. (2000). The Genetic Legacy of Paleolithic Homo Sapiens Sapiens in Extant Europeans. (pdf) Science, V290:1155-1159. |
R |
Veitia et al, (1997). | |
Wells R S, Yuldasheva N, Ruzibakiev R, Underhill P A, Evseeva I, Blue-Smith J,
Jim L, Su B, Pitchappan R, Shanmuglakshmi S, Balakrisnan K, Read M, Pearson N M, Zerjal T,
Webster M T, Zholoshvili I, Jamarjashvili E. Gambarov S, Nikbin B, Dostiev A, Aknazarov O,
Zalloua P, Tsoy I, Kitaev M, Mirrakhimov M, Chariev A, Bodmer W, F. (2001). The Eurasian Heartland: A Continental Perspective on Y-chromosome Diversity. PNAS, Vol. 98; 18:10244-10249. |
R |
Zerjal Zerjal T, Dashnyam B, Pandya A, Kayser M, Roewer L, Santos FR, Schiefenhovel W,
Fretwell N, Jobling MA, Harihara S, Shimizu K, Semjidmaa D, Sajantila A, Salo P, Crawford MH,
Ginter EK, Evgrafov OV, Tyler-Smith C, (1997). Genetic Relationships of Asians and Northern Europeans, Revealed by Y-chromosomal DNA Analysis. American Journal of Human Genetics, 1997 May;60(5):1174-83. |
Corrections/Additions made since 10 April 2006:
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